Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and whether CDG patients are at risk of secondary adrenal insufficiency and decreased adrenal cortisol production. Cortisol and ACTH concentrations were simultaneously measured between 7:44 am to 1 pm in forty-three subjects (20 female, median age 12.8 years, range 0.1 to 48.6 years) participating in an ongoing international, multi-center Natural History study for PMM2-CDG (ClinicalTrials.gov Identifier: NCT03173300). Of the 43 subjects, 11 (25.6%) had cortisol below 5 μg/dl and low to normal ACTH levels, suggestive of secondary adrenal insufficiency. Two of the 11 subjects have confirmed central adrenal insufficiency and are on hydrocortisone replacement and/or stress dosing during illness; 3 had normal and 1 had subnormal cortisol response to ACTH low-dose stimulation test but has not yet been started on therapy; the remaining 5 have upcoming stimulation testing planned. Our findings suggest that patients with PMM2-CDG may be at risk for adrenal insufficiency. Monitoring of morning cortisol and ACTH levels should be part of the standard care in patients with PMM2-CDG.Glycomine, Inc. was the sponsor of this study, and was involved in the study design and in the and interpretation of data; in the writing of the report; and in the decision to submit the article for publication. Several authors of this publication are members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543.info:eu-repo/semantics/publishedVersio

Comparison of load during diagonal striding and double poling on the roller ski during sprint

Title: Comparison of internal loading on the organism by double poling and diagonal striding during the sprint on the roller ski Objectives: The aim of the diploma thesis is to compare the internal loading using the Cortex Metamax 3B and the SenzoStar GL devices in a two-hundred meters long section performed by the maximum effort between the double poling and diagonal striding about the 10.4% climb on roller skis. Methods: The diploma thesis is conceived as an empirical field research, the aim of which is to compare a double poling and diagonal striding in terms of internal loading on roller skis during sprint. The test subject will be a group of cross-country skiers and long-distance skiers. Results: Using the measured values of the internal loading and the measured time, we found differences during comparing the diagonal striding and double polling in specific values of SF, VO2 / kg, VE. the conclusion was that diagonal striding is faster than double poling to the uphill on roller skis. Keywords: XC-skiing, roller skis, Cortex MetaMax 3B, oxygen consumption, heart rate, lactateNázev: Porovnání vnitřního zatížení u střídavého běhu dvoudobého a soupažného běhu prostého při sprintu na kolečkových lyžích Cíle: Cílem diplomové práce je porovnat vnitřní zatížení při dvousetmetrovém maximálním úseku mezi soupažným během prostým a střídavým během dvoudobým do 10,4 % stoupání na kolečkových lyžích pomocí přístroje Cortex Metamax 3B a přístroje SenzoStar GL Metody: Diplomová práce je koncipována jako empirický terénní výzkum, jejíž cílem je srovnat soupažný běh prostý a střídavý běh dvoudobý z hlediska vnitřního zatížení na kolečkových lyžích při sprintu. Testovaným subjektem bude skupina běžců na lyžích a dálkových běžců na lyžích. Výsledky: Pomocí naměřených hodnot vnitřního zatížení a naměřeného času jsme našli rozdíly při porovnání střídavého a soupažného způsobu běhu v konkrétních hodnotách SF, VO2/ kg, VE. Došli jsme k závěru, že střídavý běh dvoudobý je rychlejší než soupažný běh prostý do stoupání na kolečkových lyžích. Klíčová slova: Běh na lyžích, kolečkové lyže, Cortex MetaMax 3B, spotřeba kyslíku, srdeční frekvence, laktátPedagogika, psychologie a didaktikaFakulta tělesné výchovy a sportuFaculty of Physical Education and Spor

Comparison of load during diagonal and striding double poling on the roller ski

Title: Comparison of training impact of striding versus double poling for cross country skiing. Objectives: The goal of the research is to find out and compare the difference between striding and double poling from the point of view of internal body impact, or lactate acid, heart rate and measured time of the performance in two consecutive days, respectively. Methods: This research is conceived as an empiric field research, which considers a comparison of lactate acid (LA) levels during cool down and heart rate (SF). Compared values were measured on roller skis in two consecutive days. Results: With the help of lactate acid levels, heart rate and measured times we found the main differences between striding and double poling. To the conclusion, we found out that striding was faster from measured time perspective and also the lactate acid levels were lower than for double poling. Keywords: Cross-country skiing, roller skating, heart rate, lactate, diagonal striding, double poling

Comparison of load during diagonal striding and double poling on the roller ski during sprint

Title: Comparison of internal loading on the organism by double poling and diagonal striding during the sprint on the roller ski Objectives: The aim of the diploma thesis is to compare the internal loading using the Cortex Metamax 3B and the SenzoStar GL devices in a two-hundred meters long section performed by the maximum effort between the double poling and diagonal striding about the 10.4% climb on roller skis. Methods: The diploma thesis is conceived as an empirical field research, the aim of which is to compare a double poling and diagonal striding in terms of internal loading on roller skis during sprint. The test subject will be a group of cross-country skiers and long-distance skiers. Results: Using the measured values of the internal loading and the measured time, we found differences during comparing the diagonal striding and double polling in specific values of SF, VO2 / kg, VE. the conclusion was that diagonal striding is faster than double poling to the uphill on roller skis. Keywords: XC-skiing, roller skis, Cortex MetaMax 3B, oxygen consumption, heart rate, lactat

Physical Activity and BMI before and after the Situation Caused by COVID-19 in Upper Primary School Pupils in the Czech Republic

Regular physical activity is a very important factor in the healthy development of an individual and an essential part of a healthy lifestyle. However, today’s population still suffers from an insufficient amount of exercise caused mainly by technological progress and often inappropriate conditions for practising sports. In relation to this, we are grappling with a steady increase in obesity. During the COVID-19 pandemic, conditions for regular physical activity became even more unfavourable, with the declaration of a state of emergency and antipandemic measures leading to the closure of sports grounds and sporting competitions. Using a questionnaire survey of a sample of children (n = 1456), we found that, already before the pandemic, 69% of the observed sample had not met the recommended amount of physical activity, and only 67% of the sample was of normal weight. By comparing both groups after the end of pandemic restrictions, we found statistically significant differences at examined indicators of the children’s Body Mass Index (BMI), their physical activity, and free time spending habits. We noticed the significant differences in BMI indicators in two different categories, normal weight (7.5%) and stage 1 obesity (1.66%). Simultaneously, we noticed differences in the children’s physical activities, especially with children who attend sports playgroups connected to athletic development (8.74%). More differences were noticed in free time spending habits indicators; the most significant ones were with the children who spend their free time behind the personal computer for more than 14 h a week (5.4%) and with the children who spend their free time on social media for 8–14 h a week (18.56%)

Physical Activity and BMI before and after the Situation Caused by COVID-19 in Upper Primary School Pupils in the Czech Republic

Regular physical activity is a very important factor in the healthy development of an individual and an essential part of a healthy lifestyle. However, today's population still suffers from an insufficient amount of exercise caused mainly by technological progress and often inappropriate conditions for practising sports. In relation to this, we are grappling with a steady increase in obesity. During the COVID-19 pandemic, conditions for regular physical activity became even more unfavourable, with the declaration of a state of emergency and antipandemic measures leading to the closure of sports grounds and sporting competitions. Using a questionnaire survey of a sample of children (n = 1456), we found that, already before the pandemic, 69% of the observed sample had not met the recommended amount of physical activity, and only 67% of the sample was of normal weight. By comparing both groups after the end of pandemic restrictions, we found statistically significant differences at examined indicators of the children's Body Mass Index (BMI), their physical activity, and free time spending habits. We noticed the significant differences in BMI indicators in two different categories, normal weight (7.5%) and stage 1 obesity (1.66%). Simultaneously, we noticed differences in the children's physical activities, especially with children who attend sports playgroups connected to athletic development (8.74%). More differences were noticed in free time spending habits indicators; the most significant ones were with the children who spend their free time behind the personal computer for more than 14 h a week (5.4%) and with the children who spend their free time on social media for 8-14 h a week (18.56%)